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kts splice isoforms (14) 14
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Kidney International, ISSN 0085-2538, 05/2014, Volume 85, Issue 5, pp. 1169 - 1178
mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype–phenotype... 
Denys–Drash syndrome | diffuse mesangial sclerosis | Frasier syndrome | steroid-resistant nephrotic syndrome | focal segmental glomerulosclerosis | WT1 | Denys-Drash syndrome | Steroid-resistant nephrotic syndrome | Diffuse mesangial sclerosis | Focal segmental glomerulosclerosis | STEROID-RESISTANT | SPLICE-SITE MUTATIONS | RESISTANT NEPHROTIC SYNDROME | BINDING ACTIVITY | SUPPRESSOR GENE WT1 | WILMS-TUMOR | PROTEIN WT1 | UROLOGY & NEPHROLOGY | FRASIER-SYNDROME | EXPRESSION | Prevalence | Prognosis | Glomerulosclerosis, Focal Segmental - genetics | Humans | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Genetic Testing - methods | Nephrotic Syndrome - congenital | Incidence | Renal Insufficiency, Chronic - epidemiology | Renal Insufficiency, Chronic - therapy | Time Factors | DNA Mutational Analysis | Renal Insufficiency, Chronic - genetics | Female | Registries | Renal Insufficiency, Chronic - diagnosis | Nephrotic Syndrome - therapy | Child | Nephrotic Syndrome - diagnosis | WT1 Proteins - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Glomerulosclerosis, Focal Segmental - epidemiology | Risk Factors | Disease Progression | Glomerulosclerosis, Focal Segmental - diagnosis | Phenotype | Age of Onset | Nephrotic Syndrome - epidemiology | Glomerulosclerosis, Focal Segmental - therapy | Mutation
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 11/2011, Volume 170, Issue 11, pp. 1377 - 1383
Children with steroid-resistant nephrotic syndrome secondary to WT1-associated glomerulopathies (WT1-GP) were considered unresponsive to cyclosporin A (CsA).... 
Pediatrics | Frasier syndrome | Medicine & Public Health | WT1-associated glomerulopathies | Denys–Drash syndrome | Steroid-resistant nephrotic syndrome | Wilms’ tumour suppressor gene ( WT1 ) mutations | Cyclosporin A | Denys-Drash syndrome | Wilms' tumour suppressor gene (WT1) mutations | APOPTOSIS | SEGMENTAL GLOMERULOSCLEROSIS | STEROID-RESISTANT | INTERLEUKIN-10 | WILMS-TUMOR | SUPPRESSOR PROTEIN WT1 | MESANGIAL SCLEROSIS | PLCE1 | PEDIATRICS | FRASIER-SYNDROME | TRANSCRIPTIONAL REGULATION | Age Factors | Cyclosporine - pharmacology | Humans | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Nephrotic Syndrome - drug therapy | Molecular Targeted Therapy | Frasier Syndrome - genetics | Female | Angiotensin-Converting Enzyme Inhibitors - pharmacology | Drug Therapy, Combination | Denys-Drash Syndrome - drug therapy | Immunosuppressive Agents - pharmacology | Drug Resistance | Immunosuppressive Agents - administration & dosage | Infant, Newborn | Angiotensin-Converting Enzyme Inhibitors - administration & dosage | Methylprednisolone - pharmacology | Genes, Wilms Tumor | Podocytes - drug effects | Nephrotic Syndrome - physiopathology | Cyclosporine - administration & dosage | Frasier Syndrome - drug therapy | Mutation | Methylprednisolone - administration & dosage | Enzymes | Enzyme inhibitors | Genes | Nephrotic syndrome | Genetic aspects | Physicians (General practice) | Cyclosporine
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 2016, Volume 144, Issue August, pp. 276 - 280
Background & objectives: Clinically, nephrotic syndrome (NS) is a diverse group of symptoms; about 20 per cent of NS cases are resistant to steroid treatment,... 
Denys-drash syndrome | Wilms’ tumour 1 | Frasier syndrome | Steroid-resistant nephrotic syndrome | Focal segmental glomerulosclerosis | Indian children | MEDICINE, RESEARCH & EXPERIMENTAL | ASSOCIATIONS | MANAGEMENT | WILMS-TUMOR-1 GENE | Wilms' tumour 1 | PHENOTYPE | PREVALENCE | IMMUNOLOGY | focal segmental glomerulosclerosis | Denys-Drash syndrome | MEDICINE, GENERAL & INTERNAL | WT1 GENE | steroid-resistant nephrotic syndrome | DISEASES | SPLICE-SITE MUTATION | GONADAL-DYSGENESIS | FRASIER-SYNDROME | Glomerulosclerosis, Focal Segmental - genetics | Humans | Kidney Failure, Chronic - drug therapy | Child, Preschool | Gonads - pathology | Nephrotic Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - drug therapy | Drug Resistance - genetics | Kidney Failure, Chronic - pathology | Glomerulosclerosis, Focal Segmental - drug therapy | Female | Steroids - therapeutic use | Mutation | Gonads - surgery | Child | WT1 Proteins - genetics | Glomerulosclerosis, Focal Segmental - pathology | Gene mutations | Genetic aspects | Nephrotic syndrome | Children | Nephroblastoma | Health aspects | Diseases | Genotype & phenotype | Nephrology | Biopsy | Boys | Females | Girls | Deoxyribonucleic acid--DNA | Age | Children & youth | Original | Denys-Drash syndrome - focal segmental glomerulosclerosis - Frasier syndrome - Indian children - steroid-resistant nephrotic syndrome - Wilms′ tumour 1
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 09/2010, Volume 5, Issue 9, pp. 1655 - 1662
Journal Article
Pediatrics, ISSN 0031-4005, 10/2005, Volume 116, Issue 4, pp. 984 - 988
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 07/2017, Volume 32, Issue 7, pp. 1181 - 1192
The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with... 
Chinese | Steroid-resistant nephrotic syndrome | Children | Gene | GENE-MUTATIONS | GLOMERULAR PROTEIN | NPHS2 MUTATIONS | UROGENITAL DEVELOPMENT | WT1 | IMMUNOSUPPRESSION | UROLOGY & NEPHROLOGY | PEDIATRICS | PODOCIN | JAPANESE PATIENTS | FRASIER-SYNDROME | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | Glucocorticoids - therapeutic use | Protein Kinases - genetics | Humans | TRPC6 Cation Channel - genetics | Asian Continental Ancestry Group - genetics | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Mutation, Missense | Nephrotic Syndrome - drug therapy | DNA Mutational Analysis - methods | Genetic Testing - methods | Nephrotic Syndrome - congenital | China | Female | Child | Intracellular Signaling Peptides and Proteins - genetics | WT1 Proteins - genetics | Infant, Newborn | Genetic Predisposition to Disease | Membrane Proteins - genetics | Proteinuria - genetics | Drug Resistance - genetics | Homozygote | Adolescent | Age of Onset | Glucocorticoids - pharmacology | High-Throughput Nucleotide Sequencing | Sequence Analysis, DNA - methods | Cohort Studies | Usage | Care and treatment | Gene mutations | Analysis | Nephrotic syndrome | Nucleotide sequencing | Research | Diagnosis | Pediatric research | Genetic screening | DNA sequencing | Pediatrics | Missense mutation | Etiology | Alport syndrome | Mutation | Minority & ethnic groups | Age | Proteinuria
Journal Article
Journal Article
Pathology, ISSN 0031-3025, 02/2007, Volume 39, Issue 1, pp. 147 - 163
Continuing new insights into the biology of sexual development and advances in chromosome analysis have led to early identification and prompt treatment of the... 
Leydig cell deficiency | androgen receptor disorders | maternal ingestion of progestins or androgens | Smith-Lemli-Opitz syndrome | defect in müllerian inhibiting system | mixed gonadal dysgenesis | congenital lipoid adrenal hyperplasia | Denys-Drash syndrome | dysgenetic male pseudohermaphroditism | Klinefelter’s syndrome | Adrenogenital syndrome | defect in the Wilms’ tumour suppressor (WT1) gene | Turner’s syndrome | Frasier’s syndrome | disorders of sexual development | XX male and XY female syndrome (sex reversal) | androgen insensitivity syndromes | testicular regression syndrome | pure gonadal dysgenesis | sexual ambiguity | true hermaphroditism | male pseudohermaphroditism | maternal virilising lesions | 5-alpha-reductase type 2 deficiency | gonadoblastoma | placental aromatase defect | Frasier's syndrome | Turner's syndrome | defect in the Wilms' tumour suppressor (WT1) gene | Klinefelter's syndrome | Maternal ingestion of progestins or androgens | Placental aromatase defect | Maternal virilising lesions | Testicular regression syndrome | Male pseudohermaphroditism | defect in mullerian inhibiting system | LEMLI-OPITZ-SYNDROME | CONGENITAL ADRENAL-HYPERPLASIA | Denys -Drash syndrome | PATHOLOGY | Y-CHROMOSOME SEQUENCES | ANDROGEN INSENSITIVITY SYNDROME | LEYDIG-CELL TUMOR | MIXED GONADAL-DYSGENESIS | MULLERIAN DUCT SYNDROME | adrenogenital syndrome | CARCINOMA IN-SITU | TURNER-SYNDROME PATIENTS | FRASIER-SYNDROME | Disorders of Sex Development - pathology | Humans | Disorders of Sex Development - complications | Female | Male | Neoplasms, Germ Cell and Embryonal - complications | Neoplasms, Germ Cell and Embryonal - pathology | Disorders of Sex Development - classification | Gonadal Dysgenesis, pathology | Gonadoblastoma, genetics | Adrenal Hyperplasia, Congenital, physiopathology | Hermaphroditism, pathology | Turner Syndrome, genetics | Genitalia, Male, pathology | Hermaphroditism, genetics | Klinefelter Syndrome, pathology | Sex Differentiation Disorders, physiopathology | Maternal Exposure | Receptors, Androgen | Sertoli Cells | Gonadoblastoma, pathology | 17-Hydroxysteroid Dehydrogenases, deficiency | Placenta, enzymology | Virilism, physiopathology | Ovary, pathology | Adrenogenital Syndrome, physiopathology | Sex Differentiation Disorders, genetics | Karyotyping | Gonadal Dysgenesis, physiopathology | Testicular Neoplasms, pathology | Gonadal Dysgenesis, genetics | Testosterone 5-alpha-Reductase, deficiency | Genitalia, Female, pathology | Aromatase, deficiency | Turner Syndrome, pathology | Sex Differentiation Disorders, pathology | Mullerian Ducts, pathology | Sex Cord-Gonadal Stromal Tumors, pathology | Pregnancy | Dehydroepiandrosterone | Leydig Cells | Phenotype | Testis, pathology | Ovarian Neoplasms, pathology | Testosterone, biosynthesis | WT1 Proteins, genetics | Cholesterol, biosynthesis | Klinefelter Syndrome, genetics | Neoplasms, Gonadal Tissue, pathology
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A4
Background and aimsSteroid-resistant nephrotic syndrome (SRNS) is the rare disease and holds a special place in structure of nephrotic syndrome in children, it... 
Journal Article
Cancer Prevention Research, ISSN 1940-6207, 04/2015, Volume 8, Issue 4, pp. 271 - 276
Journal Article